A. Touati

发表

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

J. Uitto, S. Zeinali, H. Vahidnezhad, 2018, The British journal of dermatology.

The matriptase‐prostasin proteolytic cascade in dermatologic diseases

J. Uitto, Sara Pajouhanfar, H. Vahidnezhad, 2020, Experimental dermatology.

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.

S. Terry, P. Fortina, J. Uitto, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Regulation of proinflammatory genes by the circulating microRNA hsa-miR-939

Seena K. Ajit, Yiqian Zhou, A. Sacan, 2016, Scientific Reports.

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome

J. Uitto, S. Zeinali, H. Vahidnezhad, 2017, Orphanet Journal of Rare Diseases.

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

P. Fortina, J. Uitto, J. McGrath, 2017, Matrix biology : journal of the International Society for Matrix Biology.

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

P. Fortina, J. Uitto, K. K. Hesari, 2019, Human mutation.

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

J. Uitto, J. McGrath, A. Kariminejad, 2018, Human mutation.

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

J. Uitto, J. McGrath, A. Kariminejad, 2021, Matrix biology : journal of the International Society for Matrix Biology.

Alzheimers Disease: The Novel Finding of Intracellular Biofilms

S. Joshi, C. Katsetos, H. Allen, 2017 .

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

J. Uitto, J. McGrath, A. Kariminejad, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.

P. Fortina, J. Uitto, S. Zeinali, 2017, The Journal of investigative dermatology.

Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

H. Hakonarson, Cecilia Kim, J. Bradfield, 2019, Experimental dermatology.

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population

M. Alaei, S. Zeinali, M. Abiri, 2018, Journal of Inherited Metabolic Disease.

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

J. Casanova, P. Fortina, J. Uitto, 2019, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series

J. Uitto, V. Ziaee, S. Zeinali, 2018, BMC Medical Genetics.

Formation of Chlorinated Dioxins and Furans in a Hazardous-Waste-Firing Industrial Boiler

Brian K. Gullett, B. Gullett, Chun-Wai Lee, 2000 .

Self-extubation Laryngeal Injuries at an Academic Tertiary Care Center: A Retrospective Pilot Study

R. Sataloff, A. Touati, Jason E. Cohn, 2017, The Annals of otology, rhinology, and laryngology.

a including phenotype with abnormal anchoring and

A. Kariminejad, S. Zeinali, H. Vahidnezhad, 2018 .